Syndromes affecting blood

health problems caused by exposure to very high levels of ionizing radiation

Human disease

severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count

human disease

human disease

rare genetic syndrome

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin

syndrome

Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

syndrome that results in rheumatoid arthritis, splenomegaly and neutropenia

multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.

drug eruption characterized by high fever, erythematous rash and inflammation of internal organs

rare disease

human disease

rare disease

Human disease

genetic disorder

rare disease

mitochondrial metabolism disease

group of diseases that affect myelopoiesis, causing a congenital form of neutropenia

human disease

rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets

a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.